LGS

Moms Really Can Do It All - Meet Tracy: a Mom, Caregiver, Neuroscientist, and Advocate in the Rare Disease Community

Borysiuk Viktor (External) — Fri, 25 Oct 2024 11:32:26 +0000

Moms Really Can Do It All - Meet Tracy: a Mom, Caregiver, Neuroscientist, and Advocate in the Rare Disease Community

Becky Malone, US Communication

Borysiuk Vikto… Fri 25/10/2024 - 13:32

Each of us, throughout some stage in our life, will likely take on the role of a caregiver – of a child, a parent, or even a spouse or friend. Once we take that step, we are notorious for not taking care of ourselves in the same way we provide for others. In my own experience caring for a daughter living with a severe, life-threatening and rare form of epilepsy called Lennox-Gastaut syndrome (LGS), I am all too familiar with the mental burden that caregivers carry with them and the overall tendency to put our own needs last. It can be easy to lose yourself in everyday moments when your time and mental energy are so singularly focused on someone else’s care. Supporting a person who you love not only takes precedence above all else but is reinforced by the rewarding feelings it brings. At the same time, daily challenges can add up, slowly chipping away at your own quality of life and self-care.

LGS is a form of developmental and epileptic encephalopathy (DEE) that typically develops in childhood and results in frequent and difficult-to-treat seizures. People living with LGS experience a variety of complications, including frequent and severe seizures, significant behavioral and developmental delays, movement and balance issues, and sleep difficulties. Even more devastating, they are 24 times more likely to die of premature mortality, including sudden unexpected death in epilepsy (SUDEP). These ongoing challenges can create significant obstacles for both patients and their caregivers, as the condition often requires consistent and lifelong management to mitigate the dangerous side effects and detrimental impacts on quality of life.

I distinctly remember the terrifying moment I woke to the sound of my 2-year-old daughter, Savannah, making choking noises. Rushing in, we found her convulsing in her crib. I’ll never forget the words of the paramedic that night who said, ‘Her airway is clear, but what you just described sounds just like a seizure.’ That began our difficult journey with epilepsy.

By age 3, Savannah was experiencing multiple types of seizures and had to wear a helmet. By age 4, she began to have seizure clusters that would last for hours without drug intervention. By age 5, delays in her development were becoming apparent, and she was finally diagnosed with LGS. Upon her diagnosis, we were told by doctors that Savannah would never graduate from high school or live to see adulthood. The scenarios that went through my mind were unimaginable. But what I wish I had known at that time was how incredible Savannah was going to be – her fighting spirit, hilarious quips, and sassy attitude. I didn’t anticipate all of the amazing people our family would meet along the way, including other caregivers going through the same experiences. 

Over the years, I've now witnessed Savannah endure more than 40,000 seizures, a staggering figure even for a medical professional, let alone a mother. Every morning, I check that Savannah is breathing, a routine that underscores that constant feeling of being on guard 24/7 to maintain her safety. Even with meticulous care, this sense of caution never fades.

During our family’s early years experiencing seizures and utter confusion, I immersed myself in learning all I could about LGS, eventually pursuing higher education to understand the research I was reading. As my love for science grew, I juggled late nights of studying and raising my children, and my classmates became a new support system. After 12 challenging years, I earned my Ph.D. in neurobiology, driven by the hope of improving the lives of children like Savannah. 

My own research eventually uncovered the mechanism behind Savannah's epilepsy, allowing me to partner with our doctor to find a treatment that works for her. Now, Savannah is 30 years old and sassier than ever – I often think that she is one of the “lucky” ones. Yet, the transition to adulthood has been a struggle, especially knowing that currently, no family support programs exist for long-term adult care planning or for the transfer of primary care for those living with rare epilepsy syndromes. There is a significant need for support to facilitate future medical, legal, and financial planning, ensuring caregivers have access to support at every step of the journey. In fact, data from a survey, conducted by ��ֳ� of parents and adult siblings of people with rare epilepsy syndromes, found that only 22% believed they had adequate access to long-term care planning information. They shared frustration in finding support and resources and concern about how their loved ones will be supported as they transition into adulthood.

The frustrations felt by the community drive the work we do at the LGS Foundation. Alongside the efforts of companies like ��ֳ�, we now have new ways to connect as a community, raising awareness about the challenges we face as caregivers each day and offering one another support.

In 2018, ��ֳ� partnered with the LGS Foundation and Dravet Syndrome Foundation to compile the Siblings Voices Survey to assess how children adapt to growing up with siblings living with a rare epilepsy syndrome. Grounded in this community insight, the VIP Siblings Project supports people who have a brother or sister with a rare epilepsy syndrome. These siblings are often unselfish, dedicated, and able to see past the challenges, exhibiting understanding and compassion beyond their years. The education provided by the program helps families not only make better informed decisions about their loved ones’ care, but also have more space to care for themselves.

Having the opportunity to collaborate with organizations like ��ֳ� allows us to expand our mission at the LGS Foundation even further, surrounding patients and caregivers through every step of their care journey, including the transition into adulthood, and helping them navigate the moments in their lives that matter most. Ultimately, it is those moments of vulnerability, fear, and uncertainty where families like ours who experience seizures need this support.

While it has been devastating to watch what LGS has done to my child, as both a mom and a neuroscientist, I understand, in a profound way, that we must never give up the fight to stop seizures – and we never will. The real war on LGS is being waged at home, in the trenches as I call it, by each family.

To other caregivers, know you are not alone. Know that it is okay to have hope. It is hope that drives my family and my work at the LGS Foundation. With partners like ��ֳ�, we are one step closer to offering real solutions for LGS families as together, as we drive forward our relentless pursuit of a seizure-free life.

Tracy’s story was recently shared on Today.com.

Find out more about LGS here

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Paving a better future for people living with Lennox-Gastaut syndrome

Vandenbruaene Nathalie — Mon, 09 Sep 2024 08:26:26 +0000

Paving a better future for people living with Lennox-Gastaut syndrome

Konrad Werhahn, Global Medical Affairs

Vandenbruaene … Mon 09/09/2024 - 10:26

For over 30 years, we have provided solutions that have helped improve the lives of millions of people living with epilepsy. Through both our initiatives and collaborations with partners, we are always striving to use our expertise to make a difference in the lives of people living with epilepsy.

A priority focus area for ��ֳ� is Lennox-Gastaut syndrome (LGS), a rare severe form of epilepsy with a significant burden for patients and families and high unmet medical need.

What is LGS?

LGS affects an estimated one million people worldwide; it is a severe childhood-onset developmental and epileptic encephalopathy (DEE), a group of epilepsies associated with developmental impairment, and characterized by several different seizure types.

People living with LGS often experience drug-resistant seizures, meaning that multiple treatment attempts have failed to help them to minimize seizure burden, which makes the condition extremely difficult to treat. Overall mortality and Sudden Unexpected Death in Epilepsy (SUDEP) are also major concerns for people living with LGS and their loved ones.

The impact of LGS goes beyond seizures and includes cognitive impairment, communication difficulties, psychiatric symptoms, sleep and behavioral challenges, and mobility problems. All of these issues significantly impact both patients’ and caregivers’ quality of life.

Why is there a significant unmet need in LGS?

A ��ֳ�-supported study presented at the 15th European Epilepsy Congress 2024 highlighted the significant burden for people living with LGS in Europe, featuring data from 454 people living with LGS.

The main findings from the study included:

People living with LGS experience both seizure and non-seizure impairments, that become increasingly significant with age
Despite people with LGS on average receiving more than three antiseizure medications each day, only 13% report good or very good quality of life
19% of people with LGS report severe or very severe physical impairment, while 28% report severe or very severe mental impairment

The study authors suggest that these findings point to an unmet need for therapies which can target both drug-resistant seizures and the non-seizure impact of LGS, to improve care for people living with the condition.

The study also found that the mean age of LGS diagnosis (five years old) was roughly a year later than the most common age of seizure onset (four years old). It’s vital that the time to diagnosis is reduced and that we build awareness of LGS to enable earlier intervention to improve outcomes for people living with the condition.

Our commitment to the LGS community

LGS is difficult to diagnose because of the lack of specific biological markers of the condition, multiple possible causes, and varied presentation of symptoms.vi At the European Epilepsy Congress (EEC), ��ֳ� presented details of a new LGS electronic decision-assisting tool based on the International League Against Epilepsy (ILAE) diagnostic criteria. Developed by a group of ten epilepsy experts1, the tool is designed to help physicians evaluate the likelihood that their patient has LGS.

It is hoped the online tool will drive disease awareness and encourage HCPs to consider LGS as a potential cause of the challenges that the patient is facing, potentially accelerating diagnosis and helping families living with LGS to receive the support they need sooner.

The importance of collaboration

Both in LGS and across the epilepsies more broadly, we are reminded of the importance of collaboration and knowledge sharing to build a better future for people living with epileptic conditions.

At ��ֳ�, we are driven to keep pushing forward with scientific innovation to better understand these life-changing conditions, the challenges being faced by the community, and how we can offer improved care to patients, their caregivers, and families. We stand with the epilepsy community and are committed to making a real difference to their lives.

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LGS Lennox-Gastaut syndrome EEC 2024 European Epilepsy Congress 2024 epilepsy

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International LGS Awareness Day

Vanco Vlastimil (��ֳ� S.A.) — Mon, 31 Oct 2022 16:02:08 +0000

International LGS Awareness Day

Mike Davis, Patient Value Neurology & Europe/International Solutions

Vanco Vlastimi… Mon 31/10/2022 - 17:02

Throughout my career working with the epilepsy community, I have witnessed firsthand the strength and resilience of individuals and families living with epilepsy.

We can never stop learning and broadening our understanding, and that is why today - International LGS Awareness Day - ��ֳ� is helping raise awareness of the rare epilepsy Lennox-Gastaut Syndrome (LGS) and elevating stories from those directly affected.

For those who are not aware, LGS is a severe, rare epilepsy syndrome that can develop over time, typically starting with seizures around preschool age. People living with LGS experience multiple types of seizures, which are almost always very difficult to treat.

LGS has far-reaching effects beyond seizures, including issues with communication, psychiatric symptoms, sleep, behavioral challenges, and mobility. Nearly everyone with LGS will have developmental delay within five years of diagnosis, and LGS often results in lifelong disability.

We are often told that life with LGS is ‘consistently inconsistent’, and that having a child with LGS can be emotionally isolating, therefore a strong community of support is important - as LGS affects each person and their family differently.

Today, we’re proud to be able to share a glimpse of one family’s daily life.

Please do watch this short video to hear from Lori, a mother of a son living with LGS on her family’s experience, to learn more.

We will be sharing the stories of families impacted by this rare disease today and throughout the year.

Join in this International LGS Awareness Day by helping raise awareness and advocating for those in need, connecting people to the great resources and organizations out there who can help.

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Lennox-Gastaut syndrome LGS epilepsy International LGS Awareness Day

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LGS

Moms Really Can Do It All - Meet Tracy: a Mom, Caregiver, Neuroscientist, and Advocate in the Rare Disease Community

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Paving a better future for people living with Lennox-Gastaut syndrome

What is LGS?

Why is there a significant unmet need in LGS?

Our commitment to the LGS community

The importance of collaboration

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International LGS Awareness Day

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